When a child’s symptoms stump one specialist after another for years on end, families describe the experience as grueling and ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

Shaped by thousands of years of evolution, the body’s immune system is a vigilant guardian primed against external infectious threats. Too much vigilance, however, and this guardian of potent cells ...

Extra X chromosomes significantly increase the risk for systemic lupus erythematosus (SLE) and Sjögren disease, with the prevalence of these conditions being higher among patients with Klinefelter and ...

Conventional investigations of the genetic contributors to Alzheimer's disease (AD) risk and progression have ignored the role of the X-chromosome, primarily due to technical analysis limitations. To ...

Rosa Rademakers and Bryan Traynor received this year’s Breakthrough Prize for identifying the most common genetic cause of ...

Eighty percent of patients with autoimmune diseases are female. These diseases are one of the top 10 leading causes of death for women under 65, and cases are increasing annually worldwide. There is ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...

The 23 pairs of human chromosomes. People who inherit two tall X chromosomes (bottom right) are much more susceptible to autoimmune diseases than people with one X and one short Y chromosome. BSIP / ...

Earlier methods to synthesize HAC relied on linking shorter DNA constructs into a larger chromosome within the cell in a process called multimerization. However, the genetic fragments tended to ...